@article{037c8b9bc550434bab153e7f9e9fdeaa,
title = "Natural history of three late-diagnosed classic Galactosemia patients",
abstract = "The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of late-onset manifestations.",
keywords = "Classic galactosemia, Late diagnosis, Natural history",
author = "Dulce Quelhas and Kingma, {Sandra D.K.} and Jonckheere, {An I.} and Smeets-Peels, {Claudia S.} and Gomes, {Daniel Costa} and Jos{\'e} Duro and Anabela Oliveira and Gert Matthijs and Steinbusch, {Laura K.M.} and Jaak Jaeken and Isabel Rivera and Estela Rubio-Gozalbo",
note = "Funding Information: This work is supported by National Funds through the FCT-Funda{\c c}{\~a}o para a Ci{\^e}ncia e a Tecnologia ( Portuguese National Funding Agency for Science, Research and Technology ) in the frameworks of the UID/Multi/00215/2013 project – Unit for Multidisciplinary Research in Biomedicine–UMIB/ICB AS/UP , ERA-Net for Research on Rare Diseases ( ERA-NET Cofound Action N° 64578 ; Euroglycanomics) (G.M., M.P.W., F.F.), and by the Jaeken-Theunissen CDG Fund . Publisher Copyright: {\textcopyright} 2023",
year = "2024",
doi = "10.1016/j.ymgmr.2024.101057",
language = "English",
volume = "38",
journal = "Molecular Genetics and Metabolism Reports",
issn = "2214-4269",
publisher = "Elsevier Science",
}